Golden Helix · Learning Center
Clinical Genomics Learning Center
Long-form guides for clinical lab directors, bioinformaticians, and clinical geneticists. The NGS pipeline, ACMG classification, test selection, and the operational reality of clinical genomics.
About These Guides
Written for labs that need to scale.
Each guide here is written for working clinical professionals: lab directors building a new sequencing program, bioinformaticians evaluating an interpretation platform, genetic counselors explaining a result, oncologists weighing a tumor profile. The framing is practical and the evidence is cited.
Golden Helix has worked in clinical genomics since 1998, and we introduced the primary, secondary, tertiary analysis taxonomy in our 2011 Hitchhiker's Guide to NGS. These pages bring that perspective up to date.
Start Here
The Foundation
If you are new to clinical NGS or building a new lab program, start with the full pipeline overview. Every other guide assumes this background.
Pipeline Stages
Through the Analysis Pipeline
The interpretive half of the pipeline is where labs differentiate. These two guides go deeper than the NGS overview on how raw variant calls become clinical conclusions.
Choosing a Test
WES, WGS, and the Test Selection Decision
Different patients need different scopes of sequencing. These guides cover what each test actually is and the criteria that determine which to order.
Clinical Applications
Where the Pipeline Meets the Patient
Three families of clinical context: inherited disease, cancer, and the rare disease diagnostic journey. Each has its own analytical pipeline, classification framework, and patient-facing implications.
Lab Operations
Software, Infrastructure, and Buying
When the question shifts from "what is the science" to "what do we deploy and how do we stay accredited," these are the guides labs reach for.